Incidental Mutation 'IGL00821:Cpa2'
ID |
13388 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cpa2
|
Ensembl Gene |
ENSMUSG00000071553 |
Gene Name |
carboxypeptidase A2, pancreatic |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00821
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
30541641-30564475 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 30564411 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 414
(D414G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093771
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049251]
[ENSMUST00000096066]
|
AlphaFold |
Q504N0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000049251
|
SMART Domains |
Protein: ENSMUSP00000048558 Gene: ENSMUSG00000039070
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
Pfam:Propep_M14
|
27 |
101 |
2.5e-20 |
PFAM |
Zn_pept
|
122 |
403 |
2.3e-140 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000096066
AA Change: D414G
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000093771 Gene: ENSMUSG00000071553 AA Change: D414G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
Pfam:Propep_M14
|
26 |
100 |
3.5e-25 |
PFAM |
Zn_pept
|
121 |
400 |
3.4e-143 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144282
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a member of the carboxypeptidase A family of zinc metalloproteases. The encoded preproprotein undergoes proteolytic processing that removes the N-terminal activation peptide to generate a functional enzyme. This gene is expressed by the pancreatic exocrine cells which secrete the enzyme during digestion. This gene is located in a cluster of carboxypeptidase genes on chromosome 6. [provided by RefSeq, Jul 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cad |
T |
C |
5: 31,218,828 (GRCm39) |
Y550H |
probably damaging |
Het |
Cep350 |
A |
G |
1: 155,737,950 (GRCm39) |
V2631A |
probably benign |
Het |
Dhx38 |
T |
C |
8: 110,282,286 (GRCm39) |
I714V |
probably benign |
Het |
Dis3 |
T |
C |
14: 99,328,922 (GRCm39) |
I277V |
probably benign |
Het |
Espl1 |
T |
C |
15: 102,208,248 (GRCm39) |
L418P |
probably damaging |
Het |
F7 |
A |
G |
8: 13,078,802 (GRCm39) |
T78A |
probably benign |
Het |
Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
Golga3 |
C |
A |
5: 110,352,799 (GRCm39) |
H897N |
possibly damaging |
Het |
Itgae |
T |
A |
11: 73,013,974 (GRCm39) |
D724E |
probably damaging |
Het |
Klb |
A |
T |
5: 65,529,492 (GRCm39) |
Y340F |
probably damaging |
Het |
Kmt2b |
A |
T |
7: 30,270,038 (GRCm39) |
L2436Q |
probably damaging |
Het |
Krt17 |
A |
G |
11: 100,151,457 (GRCm39) |
L112P |
probably damaging |
Het |
Lrp2 |
T |
A |
2: 69,289,860 (GRCm39) |
N3660Y |
probably damaging |
Het |
Mia2 |
T |
C |
12: 59,217,106 (GRCm39) |
|
probably null |
Het |
Myh2 |
C |
T |
11: 67,088,223 (GRCm39) |
|
probably benign |
Het |
Nr2f1 |
A |
G |
13: 78,346,233 (GRCm39) |
|
probably benign |
Het |
Odf2l |
T |
A |
3: 144,856,748 (GRCm39) |
S568T |
probably damaging |
Het |
Parl |
G |
A |
16: 20,116,958 (GRCm39) |
P80S |
probably damaging |
Het |
Ppfibp2 |
T |
G |
7: 107,329,083 (GRCm39) |
F531V |
probably damaging |
Het |
Prpf40b |
A |
G |
15: 99,214,382 (GRCm39) |
E854G |
probably benign |
Het |
Rere |
A |
G |
4: 150,703,920 (GRCm39) |
K1551E |
probably damaging |
Het |
Sacm1l |
A |
T |
9: 123,399,614 (GRCm39) |
Q302L |
possibly damaging |
Het |
Slc41a2 |
A |
G |
10: 83,149,394 (GRCm39) |
|
probably benign |
Het |
Smchd1 |
T |
C |
17: 71,705,618 (GRCm39) |
T994A |
possibly damaging |
Het |
Ubxn7 |
G |
A |
16: 32,188,216 (GRCm39) |
D125N |
probably damaging |
Het |
Zfp667 |
A |
G |
7: 6,308,396 (GRCm39) |
N355D |
possibly damaging |
Het |
Zfp839 |
T |
C |
12: 110,831,441 (GRCm39) |
|
probably null |
Het |
Zfpm2 |
T |
A |
15: 40,966,783 (GRCm39) |
N957K |
probably damaging |
Het |
|
Other mutations in Cpa2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01832:Cpa2
|
APN |
6 |
30,551,998 (GRCm39) |
missense |
probably benign |
|
IGL02233:Cpa2
|
APN |
6 |
30,557,666 (GRCm39) |
splice site |
probably benign |
|
IGL02534:Cpa2
|
APN |
6 |
30,550,767 (GRCm39) |
missense |
probably benign |
0.20 |
IGL03057:Cpa2
|
APN |
6 |
30,557,726 (GRCm39) |
missense |
probably damaging |
1.00 |
R0931:Cpa2
|
UTSW |
6 |
30,552,070 (GRCm39) |
splice site |
probably benign |
|
R1442:Cpa2
|
UTSW |
6 |
30,544,865 (GRCm39) |
splice site |
probably null |
|
R1664:Cpa2
|
UTSW |
6 |
30,554,314 (GRCm39) |
missense |
probably damaging |
0.98 |
R1752:Cpa2
|
UTSW |
6 |
30,552,023 (GRCm39) |
missense |
probably damaging |
1.00 |
R2761:Cpa2
|
UTSW |
6 |
30,554,193 (GRCm39) |
missense |
probably damaging |
1.00 |
R4535:Cpa2
|
UTSW |
6 |
30,552,020 (GRCm39) |
missense |
probably benign |
0.19 |
R4913:Cpa2
|
UTSW |
6 |
30,554,292 (GRCm39) |
missense |
probably damaging |
1.00 |
R5256:Cpa2
|
UTSW |
6 |
30,547,196 (GRCm39) |
missense |
probably damaging |
0.96 |
R5461:Cpa2
|
UTSW |
6 |
30,544,180 (GRCm39) |
missense |
probably benign |
0.03 |
R5630:Cpa2
|
UTSW |
6 |
30,550,731 (GRCm39) |
splice site |
probably null |
|
R6629:Cpa2
|
UTSW |
6 |
30,554,193 (GRCm39) |
missense |
probably damaging |
0.99 |
R7368:Cpa2
|
UTSW |
6 |
30,551,989 (GRCm39) |
missense |
probably damaging |
1.00 |
R8140:Cpa2
|
UTSW |
6 |
30,544,904 (GRCm39) |
missense |
probably benign |
0.10 |
R8163:Cpa2
|
UTSW |
6 |
30,564,350 (GRCm39) |
missense |
probably damaging |
1.00 |
R8165:Cpa2
|
UTSW |
6 |
30,564,345 (GRCm39) |
missense |
probably benign |
0.00 |
R8877:Cpa2
|
UTSW |
6 |
30,541,692 (GRCm39) |
missense |
probably damaging |
1.00 |
R9780:Cpa2
|
UTSW |
6 |
30,545,536 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2012-12-06 |